Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.

ABSTRACT:

Background

Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and Drug Administration-led SEquence Quality Control project phase2 (SEQC2) effort, we perform a cross-platform multi-lab evaluation of eight Pan-Cancer panels to assess best practices for oncopanel sequencing.

Results

All panels demonstrate high sensitivity across targeted high-confidence coding regions and variant types for the variants previously verified to have variant allele frequency (VAF) in the 5-20% range. Sensitivity is reduced by utilizing VAF thresholds due to inherent variability in VAF measurements. Enforcing a VAF threshold for reporting has a pos

SUBMITTER: Gong B 

PROVIDER: S-EPMC8051090 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature